Percentage | Cases | |
---|---|---|
Gender | ||
Male | 42.9% | 3/7 |
Female | 57.1% | 4/7 |
Indifferent | 0% | 0/7 |
Unknown | 0% | 0/7 |
General | ||
Birth Length abnormalities | 0% | 0/7 |
Birth Weight abnormalities | 57.1% | 4/7 |
< P3 : Small for gestational age | 57.1% | 4/7 |
Birth Head circumference abnormalities | 0% | 0/7 |
Current Height abnormalities | 28.6% | 2/7 |
< P3 : Short stature | 28.6% | 2/7 |
Current Weight abnormalities | 14.3% | 1/7 |
< P3 : Decreased body weight | 14.3% | 1/7 |
Current Head circumference abnormalities | 0% | 0/7 |
Neurology | ||
Neurological abnormalities | 50.0% | 2/4 |
Dysphagia | 50.0% | 2/4 |
Gowers sign | 50.0% | 2/4 |
Abnormality of muscle size | 25.0% | 1/4 |
Areflexia | 25.0% | 1/4 |
Brisk reflexes | 25.0% | 1/4 |
Lower limb muscle weakness | 25.0% | 1/4 |
Muscular hypotonia of the trunk | 25.0% | 1/4 |
Neck flexor weakness | 25.0% | 1/4 |
Upper limb muscle weakness | 25.0% | 1/4 |
Waddling gait | 25.0% | 1/4 |
Weak voice | 25.0% | 1/4 |
Brain abnormality | 100.0% | 1/1 |
Abnormality of the cerebrospinal fluid | 100.0% | 1/1 |
Facial abnormalities | ||
Abnormality of the ear | 16.7% | 1/6 |
Low-set ears | 16.7% | 1/6 |
Abnormality of the eye | 71.4% | 5/7 |
Downslanted palpebral fissures | 42.9% | 3/7 |
Ptosis | 42.9% | 3/7 |
Esotropia | 14.3% | 1/7 |
Proptosis | 14.3% | 1/7 |
Short palpebral fissure | 14.3% | 1/7 |
Telecanthus | 14.3% | 1/7 |
Underdeveloped supraorbital ridges | 14.3% | 1/7 |
Abnormality of the mouth | 100.0% | 6/6 |
Median cleft palate | 50.0% | 3/6 |
Mandibular prognathia | 33.3% | 2/6 |
Narrow jaw | 33.3% | 2/6 |
Tented upper lip vermilion | 16.7% | 1/6 |
Heart | ||
Abnormality of the heart | 16.7% | 1/6 |
Patent foramen ovale | 16.7% | 1/6 |
Pulmonary hypertension | 16.7% | 1/6 |
Tricuspid regurgitation | 16.7% | 1/6 |
Pulmonary | ||
Abnormality of the lungs | 100.0% | 7/7 |
Abnormality of the diaphragm | 57.1% | 4/7 |
Pulmonary hypoplasia | 42.9% | 3/7 |
Hypercapnia | 28.6% | 2/7 |
Respiratory failure | 28.6% | 2/7 |
Diaphragmatic eventration | 14.3% | 1/7 |
Dyspnea | 14.3% | 1/7 |
Pneumonia | 14.3% | 1/7 |
Respiratory distress | 14.3% | 1/7 |
Gastrointestinal | ||
Gastrointestinal abnormalities | 14.3% | 1/7 |
Decreased liver function | 14.3% | 1/7 |
Urogenital | ||
Abnormality of the urogenital system | 28.6% | 2/7 |
Cryptorchidism | 28.6% | 2/7 |
Dilatation of the renal pelvis | 14.3% | 1/7 |
Hydronephrosis | 14.3% | 1/7 |
Renal duplication | 14.3% | 1/7 |
Skeleton | ||
Skeletal abnormalities | 100.0% | 7/7 |
Distal arthrogryposis | 28.6% | 2/7 |
Overlapping toe | 28.6% | 2/7 |
Pectus excavatum | 28.6% | 2/7 |
Abnormality of the scapula | 14.3% | 1/7 |
Abnormality of the costochondral junction | 14.3% | 1/7 |
Clinodactyly of the 5th finger | 14.3% | 1/7 |
Hand clenching | 14.3% | 1/7 |
Interphalangeal joint contracture of finger | 14.3% | 1/7 |
Joint contracture of the hand | 14.3% | 1/7 |
Knee flexion contracture | 14.3% | 1/7 |
Narrow chest | 14.3% | 1/7 |
Overlapping fingers | 14.3% | 1/7 |
Small hand | 14.3% | 1/7 |
Tapered finger | 14.3% | 1/7 |
Thoracic kyphoscoliosis | 14.3% | 1/7 |
Toe clinodactyly | 14.3% | 1/7 |
Skin / Hair / Nails | ||
Abnormality of the skin/hair/nails | 14.3% | 1/7 |
Generalized hypertrichosis | 14.3% | 1/7 |
Long eyelashes | 14.3% | 1/7 |
Endocrine / Immunological / Metabolic | ||
Abnormality of the immune system | 25.0% | 1/4 |
Recurrent respiratory infections | 25.0% | 1/4 |